Variant report

Variant	rs4141421
Chromosome Location	chr6:72186471-72186472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10155718	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1738070	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1738072	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs472572	0.85[EUR][1000 genomes]
rs472935	0.84[EUR][1000 genomes]
rs478959	0.84[EUR][1000 genomes]
rs493265	0.84[EUR][1000 genomes]
rs494938	0.84[EUR][1000 genomes]
rs495002	0.84[EUR][1000 genomes]
rs504139	0.84[EUR][1000 genomes]
rs537876	0.85[EUR][1000 genomes]
rs543625	0.85[EUR][1000 genomes]
rs558116	0.84[EUR][1000 genomes]
rs573317	0.99[EUR][1000 genomes]
rs701698	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs701699	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852919	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs852920	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs852923	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs852924	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs852926	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs852927	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs852928	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852929	0.97[ASN][1000 genomes]
rs852930	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs852931	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs852962	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases
2	nsv1025409	chr6:72175998-72205044	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72178600-72187800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:72179400-72186600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:72179400-72186800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:72179400-72191200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:72183000-72192600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:72183800-72186800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:72184000-72186800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:72184000-72186800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:72184000-72186800	Weak transcription	NHLF	lung
10	chr6:72184000-72187000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:72184200-72186800	Weak transcription	HUVEC	blood vessel
12	chr6:72184200-72187600	Weak transcription	HSMMtube	muscle
13	chr6:72184200-72188400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:72184400-72186600	Weak transcription	NH-A	brain
15	chr6:72184400-72186800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:72184400-72187600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:72185400-72188400	Enhancers	NHDF-Ad	bronchial
18	chr6:72185400-72192600	Enhancers	HSMM	muscle
19	chr6:72185600-72186800	Enhancers	NHEK	skin
20	chr6:72185600-72188400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:72185600-72188400	Enhancers	Osteobl	bone
22	chr6:72185800-72188400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:72185800-72189800	Enhancers	HMEC	breast
24	chr6:72186000-72186800	Weak transcription	Hela-S3	cervix
25	chr6:72186000-72187000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:72186000-72187000	Weak transcription	Adipose Nuclei	Adipose
27	chr6:72186000-72187800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:72186000-72187800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:72186000-72189600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:72186000-72189800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:72186200-72187800	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:72186200-72188000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:72186200-72188000	Weak transcription	Fetal Lung	lung
34	chr6:72186200-72188400	Weak transcription	Fetal Kidney	kidney
35	chr6:72186400-72189600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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